List of variants in gene AHI1 reported as uncertain significance for not specified

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly)	rs199578341	0.00102
NM_001134831.2(AHI1):c.1013T>G (p.Leu338Trp)	rs201790260	0.00033
NM_001134831.2(AHI1):c.1415G>A (p.Arg472Gln)	rs770605375	0.00014
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter)	rs780163791	0.00013
NM_001134831.2(AHI1):c.1235A>G (p.Gln412Arg)	rs1264460804	0.00001
NM_001134831.2(AHI1):c.2784A>T (p.Glu928Asp)	rs538724792	0.00001
GRCh37/hg19 6q23.3(chr6:135711195-135740496)
NC_000006.11:g.(135679326_135715913)_(135732683_135748304)del
NC_000006.11:g.(135726116_135732485)_(135818904_?)dup
NM_001134831.2(AHI1):c.1253C>A (p.Pro418Gln)	rs2128077398
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro)	rs374009466
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg)	rs863225144
NM_001134831.2(AHI1):c.2988del (p.Val997fs)	rs755246809
NM_001134831.2(AHI1):c.3484C>T (p.His1162Tyr)
NM_001134831.2(AHI1):c.3486-10C>T
NM_001134831.2(AHI1):c.983G>T (p.Ser328Ile)	rs777420094

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